The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

sis of the presence or absence of additional symptoms. Type I (OMIM#193500) presents dystopia canthorum. Type II (OMIM#193510) has no additional feature, type III (OMIM#148820) presents dystopia canthorum and musculoskeletal abnormalities of the upper limbs, and type IV (OMIM#277580) represents Hirschsprung’s disease [3]. Types I and III are caused by mutations in the PAX3 gene. Mutations in the MITF and SNAI2 genes are responsible for type II WS. Mutations in the SOX10, END3, or EDNRB genes cause type IV WS [4]. Among these four types of WS, WS type IV is unique and also known as WS or Hirschsprung’s disease type II. Hirschsprung’s disease accompanied in WS type IV is a well-known congenital gastrointestinal malformation disorder, which is characterized by the absence of epidermal melanocytes and enteric ganglia leading delayed meconium passage and abdominal distension The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations